- Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort
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Koenighofer M, Parzefall , Frohne A, Allen M, Unterberger U, Laccone F, Schoefer C, Frei K, Lucas T
- KMID: 2462737
- Clin Exp Otorhinolaryngol.
- 2019 Nov;12(4):405-411.
- doi: 10.21053/ceo.2019.00304
OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused... -
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